Disease: Spinocerebellar ataxia 19 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397515476
rs397515476 		1.000 0.080 1 111981673 missense variant T/C;G snv
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 4 2010 2018
dbSNP: rs797045634
rs797045634 		1.000 0.080 1 111981693 missense variant C/A snv
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 4 2010 2018
dbSNP: rs397515477
rs397515477 		1.000 0.080 1 111787094 missense variant C/T snv
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 2012 2018
dbSNP: rs397515478
rs397515478 		1.000 0.080 1 111787044 missense variant C/T snv
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 2012 2018
dbSNP: rs1057519453
rs1057519453 		1.000 0.080 1 111787060 missense variant A/G snv
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1057521793
rs1057521793 		1.000 0.080 1 111787102 missense variant C/T snv
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs397515475
rs397515475 		1.000 0.080 1 111982045 inframe deletion AAG/- delins
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0